1. The Caregiving Study at the National Institutes of Health
Exploring the relationship between stress, coping, and social support in families caring for children diagnosed
with inherited metabolic conditions

2. Study Goals
Understand how social environment might influence the way family members cope with caregiving responsibilities
Assess the impact of caregiving processes and the social environment on the genetic, cardiovascular, hormonal and immune markers of stress
Develop approaches to help families cope better and stay healthy

3. Who can participate?
Any parent or caregiver interested in sharing their story of caring for someone with an inherited metabolic condition
• 18 years or older
• Able to read, write, and speak English
• Willing to share about your
Family relationships and support system
Concerns and beliefs about inherited metabolic conditions
Emotional/mental health and coping style
Caregiving and parenting experiences

4. Refer family/caregivers
What’s involved?
Phone consent
10 minutes
Two online surveys
45 minutes
At home
At NIH
In-person interview
90 minutes
Phone interview
Refer family/caregivers
Not all in one day
compensation
Blood draw
Heart rate monitor
Saliva samples

5. How your participation helps
Share your story and experiences
Gain increased understanding about how your family works together to provide care to your child
Contribute to research focused on developing interventions to help families in the future who care for someone with a metabolic condition
Other family members or friends you are close with can participate in the online survey and phone interview

6. Study Progress Ongoing since spring 2016 Over 70 families participated
33 states
4 countries (US, Canada, UK, Saudi Arabia)
Families of children diagnosed with:
Propionic Acidemia
Methylmalonic Acidemia
GM1 Gangliosidosis
Leigh Syndrome
Mitochondrial Disorder
Glutaric Acidemia Type 1
Isovaleric Acidemia
Galactosemia
Carnitine Deficiency Syndrome

7. Study Progress Continued
Child Age
2-4
5-11
12-17
18+
Number of Families 18 21 14 17
Parents with children of any age are welcome to participate Parents with infants under the age of 2 needed!

8. Participate at NIH Collaborations with:
Clinical and Basic Investigations of Methylmalonic Acidemia (MMA)
Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia (PA)
The NIH MINI Study: Metabolism, Infection and Immunity in Inborn Errors of Metabolism
Investigation of Neurodegeneration in the Glycosphingolipid Storage Disorders

9. Contact us for more info OR
(301)
Principal Investigator:
Laura Koehly, PhD